What are HapMap populations?
The HapMap describes the common patterns of genetic variation in humans. It includes the chromosome regions with sets of strongly associated SNPs, the haplotypes in those regions and the SNPs that tag those haplotypes. It also notes the chromosome regions where associations among SNPs are weak.
What are HapMap samples?
Genotyping refers to uncovering what genotype a person has at a particular site. The HapMap project chose a sample of 269 individuals and selected several million well-defined SNPs, genotyped the individuals for these SNPs, and published the results. The alleles of nearby SNPs on a single chromosome are correlated.
What does a haplotype map mean?
The haplotype map, or “HapMap,” is a tool that allows researchers to find genes and genetic variations that affect health and disease. This pattern of SNPs on a block is a haplotype. Blocks may contain a large number of SNPs, but a few SNPs are enough to uniquely identify the haplotypes in a block.
What is hapmap3?
HapMap 3 is the third phase of the International HapMap project. This phase increases the number of DNA samples covered from 270 in phases I and II to 1,301 samples from a variety of human populations. This is the draft release 3. The definitive data are available from the HapMap ftp site.
What is NA12878?
In 2015, NIST released the pilot genome Reference Material 8398, which is genomic DNA (NA12878) derived from a large batch of the Coriell cell line GM12878, characterized for high-confidence SNPs, indel, and homozygous reference regions (Zook, et al., Nature Biotechnology 2014 and Zook, et al., Nature Biotechnology …
How many haplotypes does each human have?
An HLA haplotype is defined as the set of histocompatibility genes that are on the same chromosome 6 and so are inherited together. Each individual has two HLA haplotypes, one on the chromosome 6 inherited from the individual’s mother and the other on the chromosome 6 inherited from the individual’s father.
How many haplotypes are in the human genome?
To determine the general structure of human haplotypes, we selected 54 autosomal regions, each with an average size of 250,000 base pairs (bp), spanning 13.4 megabases (Mb) (≈0.4%) of the human genome.